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The Classical Type of EDS is characterized by highly elastic, soft, and doughy skin; unusual scarring; and loose joints. This type of Ehlers-Danlos Syndrome combines the types formerly called I and II. Ehlers-Danlos Syndrome, Classical Type is a subtype of Ehlers-Danlos Syndrome.
People with the Classical Type have smooth, velvety skin that is stretchy, fragile, and easily bruised. Wounds often split open with little bleeding, heal slowly, and leave characteristic thin, wide scars ("cigarette paper" scars). People with this condition also have loose joints with an unusually large range of movement (hypermobility). As a result, joints are prone to dislocation, sprains, and the early-onset arthritis. Non-cancerous fibrous growths on pressure points (such as elbows) and fatty growths on the forearms and shins are also common. Other manifestations include weak muscle tone in infants due to hypermobility, which can make them seem "floppy" and delay the development of motor skills such as sitting, standing, and walking. As many as half of the people with Classical Type Ehlers-Danlos Syndrome have a condition called mitral valve prolapse, which affects blood flow between the chambers of the heart.
The Classical Type is one of the most common forms of Ehlers-Danlos Syndrome. This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. In the rare cases caused by TNXB mutations, the condition has shown an autosomal recessive pattern of inheritance, which means two copies of the gene must be altered for a person to be affected by the disorder.
The clinical diagnosis of EDS, Classic Type is established by family history and clinical examination. Diagnostic criteria was developed by a medical advisory group in a conference (sponsored by the Ehlers-Danlos Foundation [USA] and the Ehlers-Danlos Support Group [UK]) at Villefranche in 1997 [Beighton et al 1998] The combination of the first three major diagnostic criteria should have a high specificity for EDS, Classical Type. The presence of one or more minor criteria contributes to the diagnosis of the Classical Type of EDS but is not sufficient to establish the diagnosis.
Major Diagnostic Criteria for the Classical Type of EDS
- Skin hyperextensibility should be tested at a neutral site (one not subjected to mechanical forces or scarring), such as the volar surface of the forearm. It is measured by pulling up the skin until resistance is felt. In young children, hyperextensibility of the skin is difficult to assess because of abundant subcutaneous fat.
- Widened atrophic scars (a manifestation of tissue fragility)
- Joint hypermobility depends on age, gender, and family and ethnic backgrounds. Joint hypermobility in Classical Type EDS is general, affecting both large and small joints. It is usually noted when a child starts to walk. It should be assessed using the Beighton scale [Beighton 1988], the most widely accepted grading system for the objective semi-quantification of joint hypermobility
Minor Diagnostic Criteria for the Classical Type of EDS
- Molluscoid pseudotumors: fleshy, heaped-up lesions associated with scars over pressure points such as the elbows and knees
- Subcutaneous spheroids: small, cyst-like, hard shot-like nodules, freely movable in the subcutis over the bony prominences of the legs and arms. They occur in about one-third of affected individuals, are numerous, and feel like hard grains of rice. X-ray reveals an outer calcified layer with a translucent core. The spheroids represent subcutaneous fat globules that have lost their blood supply, becoming fibrosed and calcified.
- Complications of joint hypermobility (sprains, dislocations,subluxations, pes planus)
- Muscle hypotonia, delayed gross motor development
- Manifestations of tissue extensibility and fragility (hiatal hernia, anal prolapse in childhood, cervical insufficiency)
- Surgical complications (postoperative hernias)
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web site by ~ Lynn Sanders